Blood-based detection of RAS mutations to guide anti-EGFR therapy in colorectal cancer patients: concordance of results from circulating tumor DNA and tissue-based RAS testing.
Blood-based detection of RAS mutations to guide anti-EGFR therapy in colorectal cancer patients: concordance of results from circulating tumor DNA and tissue-based RAS testing.
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DOI：
10.1002/1878-0261.12023
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发表时间：
2017-03
影响因子：
6.6
通讯作者：
Fox SB
中科院分区：
文献类型：
--
作者：
Schmiegel W;Scott RJ;Dooley S;Lewis W;Meldrum CJ;Pockney P;Draganic B;Smith S;Hewitt C;Philimore H;Lucas A;Shi E;Namdarian K;Chan T;Acosta D;Ping-Chang S;Tannapfel A;Reinacher-Schick A;Uhl W;Teschendorf C;Wolters H;Stern J;Viebahn R;Friess H;Janssen KP;Nitsche U;Slotta-Huspenina J;Pohl M;Vangala D;Baraniskin A;Dockhorn-Dworniczak B;Hegewisch-Becker S;Ronga P;Edelstein DL;Jones FS;Hahn S;Fox SB
一项准确的基于血液的RAS突变检测可确定转移性结直肠癌（mCRC）患者是否有资格接受抗EGFR治疗，这将使临床实践受益，因为它可以更好地为独立于组织可用性的治疗决策提供信息。本研究的目的是确定mCRC患者血浆和组织RAS突变状态之间的一致性水平，以评估基于血液的RAS突变检测是否是标准治疗RAS肿瘤检测的可行替代方法。使用高灵敏度数字PCR技术、BEAMing（珠子、乳液、扩增和磁性）对新诊断的转移性患者或复发性mCRC患者的血浆样本进行RAS检测，并与相应FFPE（福尔马林固定-石蜡包埋）的DNA测序数据进行比较肿瘤样本。如果可能，通过BEAMing重新检查不一致的组织RAS结果。血浆（51%）与肿瘤（53%）中检测到的RAS突变的患病率相似，与mCRC患者人群中观察到的RAS突变的已知患病率雅阁。血浆与肿瘤RAS结果的阳性符合率为90.4%（47/52），阴性符合率为93.5%（43/46），总体符合率（一致性）为91.8%（90/98）。血浆和组织结果的高度一致性表明，基于血液的RAS突变检测是基于组织的RAS检测的可行替代方法。
An accurate blood‐based RAS mutation assay to determine eligibility of metastatic colorectal cancer (mCRC) patients for anti‐EGFR therapy would benefit clinical practice by better informing decisions to administer treatment independent of tissue availability. The objective of this study was to determine the level of concordance between plasma and tissue RAS mutation status in patients with mCRC to gauge whether blood‐based RAS mutation testing is a viable alternative to standard‐of‐care RAS tumor testing. RAS testing was performed on plasma samples from newly diagnosed metastatic patients, or from recurrent mCRC patients using the highly sensitive digital PCR technology, BEAMing (beads, emulsions, amplification, and magnetics), and compared with DNA sequencing data of respective FFPE (formalin‐fixed paraffin‐embedded) tumor samples. Discordant tissue RAS results were re‐examined by BEAMing, if possible. The prevalence of RAS mutations detected in plasma (51%) vs. tumor (53%) was similar, in accord with the known prevalence of RAS mutations observed in mCRC patient populations. The positive agreement between plasma and tumor RAS results was 90.4% (47/52), the negative agreement was 93.5% (43/46), and the overall agreement (concordance) was 91.8% (90/98). The high concordance of plasma and tissue results demonstrates that blood‐based RAS mutation testing is a viable alternative to tissue‐based RAS testing.
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影响因子：
50.5
作者：
Bokemeyer, C.;Bondarenko, I.;Koralewski, P.
通讯作者：
Koralewski, P.
根据KRAS突变状态和大肠癌患者KRAS状态的特定地点不一致的不同转移模式。
影响因子：
3.8
作者：
Kim MJ;Lee HS;Kim JH;Kim YJ;Kwon JH;Lee JO;Bang SM;Park KU;Kim DW;Kang SB;Kim JS;Lee JS;Lee KW
通讯作者：
Lee KW
DOI：
10.1016/j.ejca.2015.04.007
发表时间：
2015-07
期刊：
European journal of cancer (Oxford, England : 1990)
影响因子：
--
作者：
Bokemeyer C;Köhne CH;Ciardiello F;Lenz HJ;Heinemann V;Klinkhardt U;Beier F;Duecker K;van Krieken JH;Tejpar S
通讯作者：
Tejpar S
影响因子：
158.5
作者：
Jonker, Derek J.;O'Callaghan, Chris J.;Moore, Malcolm J.
通讯作者：
Moore, Malcolm J.
影响因子：
45.3
作者：
Allegra, Carmen J.;Jessup, J. Milburn;Schilsky, Richard L.
通讯作者：
Schilsky, Richard L.